Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.330 Biomarker disease PSYGENET We have previously reported evidence that variation at GABA(A) receptor genes is associated with susceptibility to bipolar disorder with schizophrenia-like psychotic features (Research Diagnostic Criteria (RDC) schizoaffective disorder, bipolar type) with gene-wide significance at GABRB1, GABRA4, GABRB3, GABRA5, and GABRR3. 20583128 2010
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.330 Biomarker disease LHGDN GABA(A) receptor alpha5 subunit as a candidate gene for autism and bipolar disorder: a proposed endophenotype with parent-of-origin and gain-of-function features,with or without oculocutaneous albinism. 17353214 2007
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.330 Biomarker disease CTD_human GABA(A) receptor alpha5 subunit as a candidate gene for autism and bipolar disorder: a proposed endophenotype with parent-of-origin and gain-of-function features,with or without oculocutaneous albinism. 17353214 2007
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.330 Biomarker disease PSYGENET The positional candidate approach showed an association between bipolar disorder and TRPM2 (21q22.3), GPR50 (Xq28), Citron (12q24), CHMP1.5 (18p11.2), GCHI (14q22-24), MLC1 (22q13), GABRA5 (15q11-q13), BCR (22q11), CUX2, FLJ32356 (12q23-q24), and NAPG (18p11). 17239033 2007
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.330 Biomarker disease LHGDN GABA(A) receptor alpha5 subunit as a candidate gene for autism and bipolar disorder: a proposed endophenotype with parent-of-origin and gain-of-function features,with or without oculocutaneous albinism. 17353214 2007
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.330 Biomarker disease PSYGENET Several genetic studies have revealed that bipolar disorders are linked with the chromosomal locus of 15q11-q13, where the gamma-aminobutyric acid (GABA) receptor alpha5 subunit gene (GABRA5) locates. 15882799 2005
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.330 GeneticVariation disease BEFREE Based on these data, we examined 16 single nucleotide polymorphisms (SNPs) located within GABRB3, GABRA5 and GABRG3 for linkage disequilibrium (LD) in 226 AutD families (AutD patients and parents). 12092907 2001
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.330 Biomarker disease BEFREE We have screened the families of the Collaborative Linkage Study of Autism for several markers spanning a candidate region covering approximately 2 Mb and including the Angelman syndrome gene (UBE3A) and a cluster of gamma-aminobutyric acid (GABA(A)) receptor subunit genes (GABRB3, GABRA5, and GABRG3). 11543639 2001
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.330 GeneticVariation disease BEFREE The aim of the present study was to examine the same subjects to see if there exists a genetic association between bipolar affective disorder and the GABA receptor beta3 subunit gene (GABRB3), which is located within 100 kb from GABRA5. 11378843 2001
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.330 Biomarker disease PSYGENET The aim of the present study was to examine the same subjects to see if there exists a genetic association between bipolar affective disorder and the GABA receptor beta3 subunit gene (GABRB3), which is located within 100 kb from GABRA5. 11378843 2001
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.330 Biomarker disease PSYGENET Association between the GABA(A) receptor alpha5 subunit gene locus (GABRA5) and bipolar affective disorder. 9514592 1998
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.330 GeneticVariation disease BEFREE Association between the GABA(A) receptor alpha5 subunit gene locus (GABRA5) and bipolar affective disorder. 9514592 1998
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.310 Biomarker phenotype GENOMICS_ENGLAND Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies. 31056671 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.310 Biomarker disease GENOMICS_ENGLAND Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies. 31056671 2019
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.310 GeneticVariation phenotype BEFREE Using whole-genome sequencing, we identified a novel de novo missense variant in GABRA5 (c.880G > C, p.V294L) in a patient with severe early-onset epilepsy and developmental delay. 29961870 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.310 GeneticVariation disease BEFREE Using whole-genome sequencing, we identified a novel de novo missense variant in GABRA5 (c.880G > C, p.V294L) in a patient with severe early-onset epilepsy and developmental delay. 29961870 2018
CUI: C0751295
Disease: Memory Loss
Memory Loss 		0.310 AlteredExpression phenotype BEFREE Findings showed that juvenile gut microbiota disturbances induced chronic depression and memory loss and reduced the expression of GABA-A receptor α5 and δ subunits in the hippocampus of the adult rat. 28964773 2017
CUI: C0751295
Disease: Memory Loss
Memory Loss 		0.310 Biomarker phenotype CTD_human A reduction in hippocampal GABAA receptor alpha5 subunits disrupts the memory for location of objects in mice. 20180861 2010
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.310 Biomarker disease PSYGENET Analyses of paternal transmission of alleles of GABRA5 provided evidence for association with alcoholism, particularly in the Caucasian population and with the stricter ICD-10 definition of alcoholism (P < 0.004). 12555233 2003
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.310 GeneticVariation disease BEFREE Analyses of paternal transmission of alleles of GABRA5 provided evidence for association with alcoholism, particularly in the Caucasian population and with the stricter ICD-10 definition of alcoholism (P < 0.004). 12555233 2003
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 Biomarker disease PSYGENET Our aim was to test for a genetic association between GABA-A receptor alpha 5 subunit gene locus (GABRA(5)) and schizophrenia. 11287792 2001
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 GeneticVariation disease BEFREE Our aim was to test for a genetic association between GABA-A receptor alpha 5 subunit gene locus (GABRA(5)) and schizophrenia. 11287792 2001
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		0.310 GeneticVariation group BEFREE The distribution of allelic frequencies of the GABRA5 locus differed significantly between BP patients and controls with the 282-bp allele found to be associated with BP affective disorder, while no such difference was observed between the groups of UP patients and controls nor between the two patient groups. 9514592 1998
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		0.310 Biomarker group PSYGENET The distribution of allelic frequencies of the GABRA5 locus differed significantly between BP patients and controls with the 282-bp allele found to be associated with BP affective disorder, while no such difference was observed between the groups of UP patients and controls nor between the two patient groups. 9514592 1998
CUI: C0150080
Disease: Social Communication Disorder
Social Communication Disorder 		0.300 Biomarker disease CTD_human α5GABAA receptor deficiency causes autism-like behaviors. 27231709 2016